Vertebral joint disorder

Summary

Vertebral joint disorder (MONDO:0037847) is a disease with 1 GWAS associations across 4 studies. A subtype of vertebral column disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	vertebral joint disorder
Mondo ID	MONDO:0037847
EFO	EFO:0009477
SNOMED CT	372109003
UMLS	C0541407
MedGen	1853166
Anatomy (UBERON)	UBERON:0001468
Is cancer (heuristic)	no

Also known as: disease of intervertebral joint · disease or disorder of intervertebral joint · disorder of intervertebral joint · disorder of joint of spine · intervertebral joint disease · intervertebral joint disease or disorder

Data availability: 1 GWAS association (4 studies).

Disease family

This is a subtype of vertebral column disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › vertebral column disorder › vertebral joint disorder

Related subtypes (14): spondylocostal dysostosis, sacrum chordoma, epidural spinal canal neoplasm, Baastrup syndrome, lumbosacral lipoma, spinal stenosis, intervertebral disk degenerative disorder, coccygodynia, sacrococcygeal teratoma, spinal cord injury, tuberculosis, spinal, vertebral disorder, lumbar disk disease, dropped head syndrome

Subtypes (2): ankylosing spondylitis, infectious discitis

Genetics & variants

GWAS landscape

1 GWAS associations across 4 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
ch4:129725180	2e-07		C	0.37

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90691942	Karczewski KJ	2025	9,053	411,478	Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.
GCST90692411	Karczewski KJ	2025	231	8,645	Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.
GCST90692994	Karczewski KJ	2025	231	8,645	Pan-UK Biobank genome-wide association analyses enhance discovery and resolution of ancestry-enriched effects.
GCST90104234	Choe EK	2022	0	0	Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
unknown	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
ch4:129725180				0.304			2e-07	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.